Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097523C>T , CM000682.2:g.6097523C>T | GRCh38 |
| NC_000020.10:g.6078170C>T , CM000682.1:g.6078170C>T | GRCh37 |
| NC_000020.9:g.6026170C>T | NCBI36 |
| NG_016213.1:g.31022G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.957+1G>A MANE Select | NP_060141.3:n.957+1G>A |
| ENST00000217289.9:c.957+1G>A MANE Select | ENSP00000217289.4:n.957+1G>A |
| NM_017671.4:c.957+1G>A | NP_060141.3:n.957+1G>A |
| ENST00000217289.8:c.957+1G>A | ENSP00000217289.4:n.957+1G>A |
| ENST00000536936.1:c.186+1G>A | ENSP00000441063.1:n.186+1G>A |
| ENST00000699095.1:c.957+1G>A | ENSP00000514127.1:n.957+1G>A |
| ENST00000699096.1:n.1419+1G>A | |
| ENST00000699097.1:n.127+1G>A | |
| XM_024451935.1:c.957+1G>A | XP_024307703.1:n.957+1G>A |